Table 1.
Comparison of characteristic features in the present case and other ring chromosome 17 cases published in the literature
| Features | Present case | Gass and Taney, 1994 | Endo et al., 1999 | Shashi et al., 2003 (1 case) | Shashi et al., 2003 (2 cases) | Surace et al., 2009 | Kumari et al., 2009 | Ricard-Mousnier et al., 2007 | Qazi et al., 1979 | Charles et al., 1991 | Chudley et al., 1982 | de Palma et al., 2015 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Breakpoints | 46,XX; chr17: 80,572,212–80,983,971; hg19 | 46,XY, r(17)(p13q25) | 46,XY, r(17)/45, XY,-17 | 46,XY, r(17)(p13q25) | 46,XX, r(17)(p13q25) | 46,XY, r(17)(p13q25) | 46,XY, r(17)(p13q25) | 46,XY, r(17) | 46,XY, r(17) | 46,XY, r(17)(p13.3q25.3) | 46,XY, r(17)(q21q25) | 46,XX, r(17)(p13q25) |
| Facial dysmorphisms | none | − | hypertelorism, down-slanting palpebral fissures, epicanthal folds, flat nasal bridge, small upturned nose, elongated philtrum | bitemporal narrowing, epicanthal folds, telecanthus, broad nasal bridge, anteverted nares, thin upper lip, high-arched palate, widely spaced teeth, overfolded ear helices | − | prominent eyes, epicanthal folds, anteverted nares, thick lips, small teeth, prognatism | − | none | epicanthal folds, broad depressed nasal bridge, protruding thick upper lips, micrognathia, narrow high-arched palate | − | − | none |
| Microcephaly | − | yes | − | − | yes | yes | − | yes | − | − | − | macrocephaly |
| Neurological conditions | ID, acquired aphasia | mild ID, behavior disorder | mild ID | ID, acquired aphasia, tremor | ID, language never acquired | − | ID | ID | ID | ID | normal cognitive functions | |
| Growth | low birth weight, height below the 25th percentile, short stature | short stature | low birth weight and height, short stature | low birth weight | low birth weight | normal | − | low birth weight and height, short stature | − | short stature, low weight | − | normal |
| Orthopedics | none | − | clinodactyly | pectus excavatum, bilateral hallux valgus | − | none | − | − | clinodactyly | − | − | − |
| Heart | none | − | none | − | − | none | − | − | − | − | − | − |
| Eye | none reported | flecked retina | − | flecked retina | flecked retina | none | flecked retina | − | − | flecked retina | − | none |
| Skin | café-au-lait | café-au-lait | café-au-lait, single palmar crease | café-au-lait | café-au-lait | café-au-lait | − | none | café-au-lait, abnormal dermatoglyphics | skin pigmentation | − | café-au-lait |
| Epilepsy | IS, GTCS, CPS, NCSE | yes | − | yes | GTC | GTCS | MS | GTCS, NCSE, atonic | yes | yes | yes | CPS, NCSE |
| Drug resistance | yes | − | − | yes | no | yes | − | yes | − | − | − | yes |
| Brain abnormality | none | none | generalized atrophy, frontal and basal ganglia encephalomalacia | − | none | − | none | − | − | − | normal | |
| Other | none | − | − | anteriorly placed anus, bilateral un descended testes | − | − | − | − | − | − | − | − |
CPS, complex partial seizures; ID, intellectual disability; IS, infantile spasms, GTCS, generalized tonic-clonic seizures; MS, myoclonic seizure; NCSE, nonconvulsive status epilepticus.